Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917858
rs121917858
KERA
0.020 GeneticVariation BEFREE KERA mutation c.740A>G has been identified to date in three different populations, which makes it the most frequently occurring mutation in patients with cornea plana. 28677912

2018
dbSNP: rs121917858
rs121917858
KERA
0.020 GeneticVariation BEFREE This is the first description of recessive cornea plana in a white British family and it is the second report on the p.N247S change in the KERA gene. 17679937

2007